Hong W(1), Yun W(1), Choi W(1), Son D(1), Song G(2), You S(3). Author information:
(1)Laboratory of Cell Function Regulation, Department of Biotechnology, College
of Life Sciences and Biotechnology, Korea University, Seoul 136-701, Republic of
Korea.
(2)Institute of Animal Molecular Biotechnology, College of Life Sciences and
Biotechnology, Korea University, Seoul 02841, Republic of Korea.
(3)Laboratory of Cell Function Regulation, Department of Biotechnology, College
of Life Sciences and Biotechnology, Korea University, Seoul 136-701, Republic of
Korea. Electronic address: [Email]
ATP-binding cassette transporter subfamily D member 1 (ABCD1) gene is a member of ABC transporter super family, which conduct peroxisomal import of very long chain fatty acid and crucial underlying factor that induces X-linked adrenoleukodystrophy (X-ALD) when the gene is defected. Here, we report the generation of a human embryonic stem cell sub-line harboring a hemizygous ABCD1 mutation (C.1696_1710 del) using CRISPR/Cas9 system. Established line expresses pluripotency marker genes, can be differentiated to three germ layers, and maintains a normal karyotype.
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